Throughout the two years of medical genetics residency training, five formal didactic courses are required. The timing of the courses varies depending upon the class schedule and the resident’s current responsibilities and rotations. The following classes are required:
Molecular Genetics and Cytogenetics
Survey in Human Genetics (offered through the Human Medical Genetics Program)
Biochemical Genetics (offered every other year)
The classes are coordinated through the graduate genetic counseling program except where noted above. A log of attendance must be kept by the resident and submitted to the program director every three months. In addition, an ethics course is recommended and options to pursue this are discussed with the resident. Further, the Department of Pediatrics offers an evening fellows lecture series to which the medical genetics residents are invited and encouraged to attend.
Abnormal cases from prenatal clinic and review topics are presented and discussed by clinic staff, trainees, and faculty.
Wednesday Educational Conferences
Primary purpose is to review difficult cases and formulate future steps in the diagnostic evaluations and do critical review of recent genetic articles. First Wednesday of the month is Clinical Genetics Grand Rounds with research presentations by faculty. The second Wednesday of every month is Diagnostic Dilemma/Case Conference. The third Wednesday of every month is Journal Club during which residents present a journal article for the section. The fourth Wednesday of the month is the Clinical Cytogenetics conference which reviews cases with unique cytogenetic or molecular findings.
Clinical Cytogenetics Conference
Diagnostic Dilemma Conference
Genetics Grand Rounds
Journal Club Conference
Morbidity & Mortality Conference
IMD Clinic Conference
Provides the residents with access to interdisciplinary faculty and staff discussion regarding patient management issues. Clinic patients, inpatient consultations, and active outpatients are discussed. A short topic review by faculty, trainees, or staff also occurs.
Human Medical Genetics Program Grand Rounds
This weekly one-hour seminar provides an opportunity for residents, students, and faculty from all of the genetics programs on campus to hear both locally and nationally recognized speakers discuss topics of basic science and clinical research interests.
Pediatric Grand Rounds
This weekly one-hour seminar provides an opportunity for residents, students, and faculty from the Department of Pediatric to hear both locally and nationally recognized speakers discuss topics of basic science and clinical research interests within the field of Pediatrics.
Metabolic Laboratory Conference
Review of laboratory findings, discussions of cases and of general laboratory or clinical issues that may relate to patient care. Clinical faculty and staff and laboratory faculty and staff attend.
First Monday 2:00 PM –3:00 PM
Location: Education 2 South Bldg.
Required to attend when on the Inherited Metabolic Diseases clinic and biochemical genetics laboratory rotation
Genetics Radiology Conference
Review of patient specific radiological studies with discussion regarding the findings and possible differential diagnoses. Clinical faculty and staff and radiology faculty and trainees attend.
First Friday 7:30 AM – 8:30 AM
Location: Mt. Lincoln conference room (CHCO)
Required to attend monthly
*Conference dates & times are subject to change
Research and Scholarly Activities
Residents participating in the University of Colorado Medical Genetics Residency Program must complete a Capstone Project. This is a mentored scholarly project relevant to the field of genetics which is to be initiated during the second half of the first year and completed during the spring semester of the second year. Each project will culminate in a formal paper and/or other written product of publishable quality. Residents will present their completed projects at one of the Wednesday conference in spring semester of their second year. Additionally, residents will be encouraged to present their projects at a campus research/poster forum, submit them as abstracts for poster or platform presentation at national meetings, and/or submit them for publication, if appropriate.
To meet the diverse interests of residents entering the genetics profession, several types of projects may be appropriate for a Capstone. These may include a detailed case study and literature review, a clinical or laboratory-based research project addressing a question(s) with direct relevance to clinical genetics practice, a formal needs assessment, a secondary analysis of existing data (e.g. related to a genetic services delivery issue), or development of educational materials/programs (e.g. development/evaluation of clinical practice tools, creation/evaluation of substantive informational materials to benefit individuals/families impacted by genetic conditions, development/evaluation of a professional educational program). Ideas for projects can be proposed by residents or potential mentors; however, approval of a project will be dependent on the identification of a primary mentor who has the time and can commit to working closely with the resident in order to ensure successful completion of the proposed project.
Other considerations in selecting projects
Due to the very long lead time frequently required for review, revision, and approval of project proposals requiring full review by COMIRB, residents and their committees who are pursuing research involving human subjects are advised to undertake projects that are eligible for exempt (preferred) or expedited review status. In the event that a project requiring full review is proposed, a minimum of 3 months should be incorporated into the project timeline between date of submission of the proposal to COMIRB and anticipated completion of COMIRB review. Research involving human subjects cannot commence until IRB approval or exemption is received. Projects should be of a well-defined, realistic scope to ensure that they can realistically be completed no later than April of the resident’s second year so that the resident and reviewers can meet deadlines and requirements for on-time program completion.
Each resident will be required to form a Capstone committee consisting, at the minimum, of a primary mentor and one secondary advisor. Together, the committee members will assist the resident with proposal and timeline development, and will meet regularly with the resident for work-in-progress meetings to track progress and provide review and mentorship.
Each resident will be given three months of research time. This time may be used to work on the Capstone project or to work on another research/scholarly project. The goal is for the resident to become involved in a clinical or bench research project which results in submission of an abstract or preparation of a manuscript. The goal of this research time is to learn (a) research methodology and clinical research study, (b) informed consent and IRB approval processes, (c) evaluation of the results, including the utilization of statistical methods, and (d) experience writing and submission of an abstract and/or a manuscript. Upon completion of the research months, the resident is required to submit a written summary of his/her activities during that time which includes concept, disorder, or topic investigated, techniques or methodology utilized, research outcome, and possible future plans for research. If applicable, the resident will be required to present his/her research and findings as part of the Wednesday Journal Club and Diagnostic Dilemma conference.
Other Scholarly Activities
In addition to the formal research rotation, the residents are encouraged to participate in scholarly activities throughout the two years of residency. Attendance and submission of abstracts or presentations to local, regional, or national meetings is encouraged. The resident is required to provide the residency coordinator with copies of all abstracts, posters, presentations, and publications. In addition, teaching opportunities will be directed by the faculty to the resident and a faculty member will be available to assist the resident in presentation development. An outline of the presentation and/or a copy of the objectives or handout will also be given to the residency coordinator. If possible, a faculty member will attend the presentation and provide feedback to the resident regarding his/her teaching skills. Obtaining written teaching evaluations from the audience is encouraged.